HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919947C>G , CM000679.2:g.74919947C>G | GRCh38 |
NC_000017.10:g.72916042C>G , CM000679.1:g.72916042C>G | GRCh37 |
NC_000017.9:g.70427637C>G | NCBI36 |
NG_007882.1:g.8310G>C | |
NG_033062.1:g.673C>G | |
NG_007882.2:g.8317G>C | |
NG_033062.2:g.673C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.889G>C MANE Select | ENSP00000480279.1:p.Val297Leu | |
ENST00000579243.1:c.*488G>C | ENSP00000462568.1:n.*488G>C | |
ENST00000614341.4:c.889G>C | ENSP00000480279.1:p.Val297Leu | |
NM_001282489.2:c.580G>C | NP_001269418.1:p.Val194Leu | |
NM_173477.4:c.889G>C | NP_775748.2:p.Val297Leu | |
XM_011524296.1:c.580G>C | XP_011522598.1:p.Val194Leu | |
XM_011524296.2:c.580G>C | XP_011522598.1:p.Val194Leu | |
NM_173477.5:c.889G>C MANE Select | NP_775748.2:p.Val297Leu | |
NM_001282489.3:c.580G>C | NP_001269418.1:p.Val194Leu |